ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) (rs765333778)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000287360 SCV000372709 uncertain significance Vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335416 SCV000372710 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407117 SCV000372711 uncertain significance Vitelliform macular dystrophy type 2 2017-04-27 criteria provided, single submitter clinical testing The BEST1 c.139C>T (p.Arg47Cys) missense variant has been reported in two studies in which it is found in a homozygous state in a total of three individuals with Best vitelliform macular dystrophy, including two siblings. The p.Arg47Cys variant was also found in a heterozygous state in two unaffected parents (Kinnick et al. 2011; Sodi et al. 2011). The p.Arg47Cys variant was absent from 396 controls and is reported at a frequency of 0.00003 in the European (non-Finnish) population of the Exome Aggregation Consortium, but this is based on two alleles in a region of good sequence coverage so the variant is presumed to be rare. Based on the evidence, the p.Arg47Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for Best vitelliform macular dystrophy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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